PDF(Pubmed)
Abstract：
A male infant presented with progressive paleness of the body since 3 months of age. On examination, the child had pallor, microcephaly with dysmorphic facies (depressed nasal bridge, low set ears, retrognathia, high arched palate and tongue hamartoma). Postaxial polydactyly in bilateral hands and feet, broad great toes, with syndactyly of left fourth and fifth toes were present. The haemogram showed severe anaemia with a microcytic hypochromic picture. High-performance liquid chromatography (HPLC) was normal. However, the parents\' HPLC was suggestive of beta thalassaemia trait. Whole-exome sequencing revealed Thurston syndrome with beta-thalassaemia in homozygous pattern with a novel mutation. It is a rare genetic syndrome exclusively found in the South Asian population. Due to the rarity, identification of this syndrome is often difficult and requires awareness among clinicians. However, it is important to diagnose the disorder accurately in order to provide appropriate genetic counselling and prognostication to the parents.
摘要：
一名男性婴儿从3个月大开始出现身体进行性苍白。在检查中，孩子脸色苍白，小头畸形伴畸形相(鼻桥凹陷，低耳朵，回颌,高拱形腭和舌错构瘤）。双侧手和脚的后轴多指，宽阔的大脚趾，左第四脚趾和第五脚趾都有。血象图显示严重贫血，伴有小细胞色素减退。高效液相色谱(HPLC)正常。然而,父母的HPLC提示β地中海贫血特征。全外显子组测序显示Thurston综合征伴β-地中海贫血纯合型有新突变这是一种罕见的遗传综合征，仅在南亚人群中发现。由于稀有,这种综合征的识别通常很困难，需要临床医生的认识。然而,为了向父母提供适当的遗传咨询和预后，准确诊断疾病非常重要。
